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MCID: INT072
MIFTS: 57

Intestinal Pseudo-Obstruction

Categories: Rare diseases, Gastrointestinal diseases, Neuronal diseases, Genetic diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Intestinal Pseudo-Obstruction

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MalaCards integrated aliases for Intestinal Pseudo-Obstruction:

Name: Intestinal Pseudo-Obstruction 12 76 53 25 29 55 6 44 15 73
Chronic Idiopathic Intestinal Pseudo-Obstruction 25 37
Pseudo-Obstruction of Intestine 12 25
Familial Visceral Neuropathy 25 73
Familial Visceral Myopathy 25 59
Hollow Visceral Myopathy 53 73
Paralytic Ileus 25 73
Congenital Idiopathic Intestinal Pseudoobstruction 73
Pseudointestinal Obstruction Syndrome 25
Hereditary Hollow Visceral Myopathy 59
Familial Hollow Visceral Myopathy 59
Congenital Short Bowel Syndrome 25
Megaduodenum and/or Megacystis 59
Intestinal Pseudoobstruction 53
Intestine Pseudoobstruction 12
Visceral Myopathy, Familial 73
Pseudoobstructive Syndrome 25
Enteric Neuropathy 25
Ciip 25
Cipo 25
Ipo 25

Characteristics:

Orphanet epidemiological data:

59
familial visceral myopathy
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Gastrointestinal diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare gastroenterological diseases


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Summaries for Intestinal Pseudo-Obstruction

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NIH Rare Diseases : 53 Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms. It may be classified as neuropathic (from lack of nerve function) or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner) and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms and ensure that nutritional support is adequate.

MalaCards based summary : Intestinal Pseudo-Obstruction, also known as chronic idiopathic intestinal pseudo-obstruction, is related to chronic intestinal pseudoobstruction and congenital short bowel syndrome, and has symptoms including vomiting An important gene associated with Intestinal Pseudo-Obstruction is CLMP (CXADR Like Membrane Protein), and among its related pathways/superpathways are MAPK signaling pathway and Focal adhesion. The drugs Acetylcysteine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, small intestine and colon, and related phenotypes are megacystis and hydroureter

Genetics Home Reference : 25 Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).

Wikipedia : 76 Intestinal pseudo-obstruction is a clinical syndrome caused by severe impairment in the ability of the... more...

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Related Diseases for Intestinal Pseudo-Obstruction

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Diseases in the Intestinal Obstruction family:

Intestinal Pseudo-Obstruction

Diseases related to Intestinal Pseudo-Obstruction via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 chronic intestinal pseudoobstruction 34.1 ACTG2 SOX10
2 congenital short bowel syndrome 31.8 CLMP FLNA
3 hypoganglionosis 30.4 RET SYP
4 multiple endocrine neoplasia, type iib 30.1 EDNRB RET
5 pancreatic somatostatinoma 30.1 SST SYP
6 paraganglioma 29.6 RET SST SYP
7 pheochromocytoma 29.4 RET SST SYP
8 hydrocephalus 29.4 FLNA L1CAM SYP
9 megacolon 29.3 EDNRB RET SOX10 TLX2
10 constipation 29.0 EDNRB FLNA RET SST
11 hirschsprung disease 1 28.6 EDNRB L1CAM RET SOX10 SYP
12 paralytic ileus 12.6
13 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 12.0
14 visceral myopathy 11.6
15 chronic atrial and intestinal dysrhythmia 11.5
16 mitochondrial neurogastrointestinal encephalopathy disease 11.4
17 mungan syndrome 11.2
18 visceral neuropathy familial 11.0
19 visceral neuropathy, familial, autosomal dominant 11.0
20 lichen nitidus 10.5 FLNA RET
21 diphyllobothriasis 10.5 FLNA MT-TL1
22 systemic lupus erythematosus 10.5
23 lupus erythematosus 10.5
24 waardenburg syndrome type 4 10.5 EDNRB SOX10
25 waardenburg syndrome, type 2e 10.4 EDNRB SOX10
26 cochlear disease 10.4 EDNRB SOX10
27 myopathy 10.4
28 shoulder impingement syndrome 10.3 FLNA RET
29 scleroderma, familial progressive 10.3
30 malignant glandular tumor of peripheral nerve sheath 10.3 SST SYP
31 adenoma of the pancreas 10.3 SST SYP
32 amyloidosis 10.3
33 neuropathy 10.3
34 peritonitis 10.3
35 gastrointestinal neuroendocrine tumor 10.2 SST SYP
36 thymoma 10.2
37 neuronitis 10.2
38 pancreatoblastoma 10.2 SST SYP
39 carcinoid tumors, intestinal 10.2 SST SYP
40 ampulla of vater neoplasm 10.2 SST SYP
41 appendicitis 10.2
42 waardenburg syndrome, type 4a 10.1 EDNRB RET SOX10
43 kawasaki disease 10.1
44 colonic disease 10.1 EDNRB RET SOX10
45 strongyloidiasis 10.1
46 binswanger's disease 10.1 SST SYP
47 breast papillary carcinoma 10.1 RET SYP
48 hypertrophic pyloric stenosis 10.1 RET SST
49 carcinoid syndrome 10.1 SST SYP
50 myasthenia gravis 10.1

Graphical network of the top 20 diseases related to Intestinal Pseudo-Obstruction:



Diseases related to Intestinal Pseudo-Obstruction
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Symptoms & Phenotypes for Intestinal Pseudo-Obstruction

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Human phenotypes related to Intestinal Pseudo-Obstruction:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 megacystis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000021
2 hydroureter 59 32 hallmark (90%) Very frequent (99-80%) HP:0000072
3 vesicoureteral reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0000076
4 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
5 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
6 round face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000311
7 broad forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000337
8 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
9 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
10 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
11 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
12 narrow chest 59 32 occasional (7.5%) Occasional (29-5%) HP:0000774
13 hyperparathyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000843
14 arachnodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001166
15 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
16 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
17 anonychia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001798
18 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
19 abdominal distention 59 32 frequent (33%) Frequent (79-30%) HP:0003270
20 abdominal situs inversus 59 32 occasional (7.5%) Occasional (29-5%) HP:0003363
21 aplasia/hypoplasia of the abdominal wall musculature 59 32 frequent (33%) Frequent (79-30%) HP:0010318
22 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
23 malformation of the heart and great vessels 59 Occasional (29-5%)
24 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680

UMLS symptoms related to Intestinal Pseudo-Obstruction:


vomiting

MGI Mouse Phenotypes related to Intestinal Pseudo-Obstruction:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 ATXN7 CLMP EDNRB FLNA L1CAM RET
2 digestive/alimentary MP:0005381 9.86 EDNRB FLNA MYH11 RET SGO1 SOX10
3 growth/size/body region MP:0005378 9.85 ATXN7 CLMP EDNRB FLNA L1CAM MYH11
4 mortality/aging MP:0010768 9.7 ATXN7 CLMP EDNRB FLNA L1CAM MYH11
5 nervous system MP:0003631 9.32 RET SOX10 SST SYP TLX2 TYMP
Sources

Drugs & Therapeutics for Intestinal Pseudo-Obstruction

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Drugs for Intestinal Pseudo-Obstruction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
rituximab Approved Phase 2 174722-31-7 10201696
7
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
8
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10 Pharmaceutical Solutions Phase 2,Not Applicable
11 Alkylating Agents Phase 2
12 Antilymphocyte Serum Phase 2
13 Antimetabolites Phase 2
14 Antimetabolites, Antineoplastic Phase 2
15 Antineoplastic Agents, Alkylating Phase 2
16 Immunosuppressive Agents Phase 2
17 N-monoacetylcystine Phase 2
18 Thioctic Acid Phase 2
19 Tocopherols Phase 2
20 Tocotrienols Phase 2
21 Vitamins Phase 2
22 Alpha-lipoic Acid Nutraceutical Phase 2
23 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
24 Cola Nutraceutical Phase 1

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 The Effects of Gum Chewing on Bowel Function Recovery Following Cesarean Section Completed NCT01131416 Phase 2, Phase 3
2 Effects of Gum Chewing on Recovery of Bowel Function Following Abdominal Surgery for Endometrial and Ovarian Cancer Withdrawn NCT01389986 Phase 2, Phase 3
3 Daikenchuto for Intestinal Dysmotility and Prevention of Postoperative Paralytic Ielus After Pancreaticoduodenectomy Unknown status NCT01607307 Phase 2 Oral/enteral TJ-100 solution;Oral/enteral placebo solution
4 Efficacy Study of Prucalopride to Treat Chronic Intestinal Pseudo-Obstruction (CIP) Completed NCT00793247 Phase 2 PRU-PLA-PRU-PLA;PLA-PRU-PLA-PRU;PLA-PRU-PRU-PLA;PRU-PLA-PLA-PRU
5 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
6 Acupuncture to Prevent Postoperative Bowel Paralysis (Paralytic Ileus) Terminated NCT00065234 Phase 2
7 Therapeutic Oxygen for Gastrointestinal Atony (TOGA) Recruiting NCT03386136 Phase 1 100% Oxygen
8 Efficacy and Safety of Fecal Microbiota Transplantation for Chronic Intestinal Pseudo-obstruction Completed NCT02731183 Not Applicable
9 Small Bowel Motor Impairment in Scleroderma: Results of a Prospective 5-year Manometric Follow-up Completed NCT00213460
10 Effects of Laser Acupuncture Therapy on Paralytic Ileus Recruiting NCT03041675 Not Applicable
11 Measurement of Body Composition by Air Displacement Plethysmography in Pediatric Intestinal Failure Patients Recruiting NCT02561819
12 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815 Not Applicable

Search NIH Clinical Center for Intestinal Pseudo-Obstruction

Cochrane evidence based reviews: intestinal pseudo-obstruction

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Genetic Tests for Intestinal Pseudo-Obstruction

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Genetic tests related to Intestinal Pseudo-Obstruction:

# Genetic test Affiliating Genes
1 Intestinal Pseudo-Obstruction 29 CLMP
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Anatomical Context for Intestinal Pseudo-Obstruction

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MalaCards organs/tissues related to Intestinal Pseudo-Obstruction:

41
Smooth Muscle, Small Intestine, Colon, Lung, Heart, Liver, Lymph Node
Sources

Publications for Intestinal Pseudo-Obstruction

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Articles related to Intestinal Pseudo-Obstruction:

(show top 50) (show all 487)
# Title Authors Year
1
Paediatric Intestinal Pseudo-obstruction: Evidence and Consensus-based Recommendations From an ESPGHAN-Led Expert Group. ( 29570554 )
2018
2
Systemic sclerosis and sarcoidosis: a rare case of chronic intestinal pseudo-obstruction. ( 29699402 )
2018
3
Loss of alpha-smooth muscle actin expression associated with chronic intestinal pseudo-obstruction in a young Miniature Bull Terrier. ( 29690886 )
2018
4
Gastrointestinal: A rare case of concomitant type III achalasia and chronic idiopathic intestinal pseudo-obstruction. ( 29469232 )
2018
5
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction. ( 29781137 )
2018
6
Chronic Intestinal Pseudo-obstruction. ( 29487492 )
2018
7
The Use of Pyridostigmine in a Child With Chronic Intestinal Pseudo-Obstruction. ( 29610160 )
2018
8
Pathophysiology, Diagnosis, and Management of Chronic Intestinal Pseudo-Obstruction. ( 29877952 )
2018
9
Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum. ( 29660409 )
2018
10
Multimodal Surgical Approach for Adult Patients With Chronic Intestinal Pseudo-Obstruction: Clinical and Psychosocial Long-term Outcomes. ( 29407314 )
2018
11
Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases? ( 28377888 )
2017
12
Chronic intestinal pseudo-obstruction in children and adults: diagnosis and therapeutic options. ( 27683196 )
2017
13
Successful treatment of prokinetic-resistant intestinal pseudo-obstruction and pneumatosis cystoides intestinalis in systemic sclerosis with metronidazole. ( 28213637 )
2017
14
A frequently missed entity in systemic lupus erythematosus (SLE): Intestinal pseudo-obstruction (IpsO). ( 29308779 )
2017
15
Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant. ( 29072330 )
2017
16
Chronic intestinal pseudo-obstruction: Progress in management? ( 29143474 )
2017
17
Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation. ( 28458318 )
2017
18
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene. ( 28422808 )
2017
19
Immune-related intestinal pseudo-obstruction associated with nivolumab treatment in a lung cancer patient. ( 29067858 )
2017
20
Successful treatment of a refractory dysbiotic intestinal pseudo-obstruction in a patient with systemic sclerosis-polymyositis overlap syndrome by intravenous immunoglobulin administration possibly related to gut flora normalisation. ( 28229828 )
2017
21
Respiratory Failure Due to Intestinal Pseudo-obstruction in Systemic Sclerosis. ( 28277347 )
2017
22
Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. ( 28927774 )
2017
23
Multiple myeloma associated intestinal amyloidosis: intestinal pseudo-obstruction falsely considered as an ascites. ( 28875827 )
2017
24
Amyloidosis: An Unusual Cause of Intestinal Pseudo-Obstruction. ( 28711693 )
2017
25
Urinary glutamine/glutamate ratio as a potential biomarker of pediatric chronic intestinal pseudo-obstruction. ( 28351420 )
2017
26
Intestinal Pseudo-Obstruction as the Presenting Manifestation of Kawasaki Disease. ( 28417227 )
2017
27
Chronic Intestinal Pseudo-obstruction and Orthostatic Hypotension Associated with Small Cell Lung Cancer that Improved with Tumor Reduction after Chemoradiotherapy. ( 28883237 )
2017
28
Efficacy of percutaneous endoscopic gastro-jejunostomy (PEG-J) decompression therapy for patients with chronic intestinal pseudo-obstruction (CIPO). ( 28631871 )
2017
29
Pharmacotherapy for pediatric chronic intestinal pseudo-obstruction: Nationwide survey in Japan. ( 27862707 )
2017
30
Acute lupus pneumonitis followed by intestinal pseudo-obstruction in systemic lupus erythematosus: A case report. ( 27347044 )
2016
31
Utility of Octreotide in Advancing Enteral Feeds in Children with Chronic Intestinal Pseudo-Obstruction. ( 27520652 )
2016
32
Chronic Intestinal Pseudo-Obstruction: Clinical and Manometric Characteristics in the Chilean Population. ( 27669829 )
2016
33
Smooth-Muscle Myopathy in Systemic Lupus Erythematosus Presenting With Intestinal Pseudo-Obstruction. ( 27694873 )
2016
34
Surgical abdomen with intestinal pseudo-obstruction as presenting feature of atypical Kawasaki disease. ( 27654849 )
2016
35
Serial Frozen Fecal Microbiota Transplantation in the Treatment of Chronic Intestinal Pseudo-obstruction: A Preliminary Study. ( 27840368 )
2016
36
Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation. ( 27273837 )
2016
37
Intestinal Leiomyositis: A Cause of Chronic Intestinal Pseudo-Obstruction in 6 Dogs. ( 26608226 )
2016
38
Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate. ( 27264907 )
2016
39
Clinical Features, Morbidity, and Risk Factors of Intestinal Pseudo-obstruction in Systemic Lupus Erythematosus: A Retrospective Case-control Study. ( 26773109 )
2016
40
Chronic Intestinal Pseudo-Obstruction. ( 27305875 )
2016
41
Intestinal pseudo-obstruction in mitochondrial diseases. ( 27804144 )
2016
42
Clinical importance of cine-MRI assessment of small bowel motility in patients with chronic intestinal pseudo-obstruction: a retrospective study of 33 patients. ( 27549243 )
2016
43
Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction. ( 26818569 )
2016
44
Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity. ( 26828629 )
2016
45
Chronic intestinal pseudo-obstruction associated with enteric ganglionitis in a Persian cat. ( 28491428 )
2016
46
Comparative quantitative assessment of global small bowel motility using magnetic resonance imaging in chronic intestinal pseudo-obstruction and healthy controls. ( 26661570 )
2016
47
Two Cases of Chronic Intestinal Pseudo-obstruction: A Comparison of Staining Characteristics of Enteric Visceral Myopathy With Hirschsprung Disease. ( 26808129 )
2016
48
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. ( 26813947 )
2016
49
Intestinal pseudo-obstruction in patients with systemic sclerosis: an analysis of the Nationwide Inpatient Sample. ( 26615031 )
2016
50
Chronic intestinal pseudo-obstruction: An unusual presentation. ( 27852553 )
2016
Sources

Variations for Intestinal Pseudo-Obstruction

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ClinVar genetic disease variations for Intestinal Pseudo-Obstruction:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLMP NM_024769.3(CLMP): c.230delA (p.Glu77Glyfs) deletion Pathogenic rs587776964 GRCh37 Chromosome 11, 122955378: 122955378
2 CLMP NM_024769.3(CLMP): c.230delA (p.Glu77Glyfs) deletion Pathogenic rs587776964 GRCh38 Chromosome 11, 123084670: 123084670
3 CLMP NM_024769.3(CLMP): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs587776965 GRCh37 Chromosome 11, 122945410: 122945410
4 CLMP NM_024769.3(CLMP): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs587776965 GRCh38 Chromosome 11, 123074702: 123074702
5 CLMP NM_024769.3(CLMP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs587776966 GRCh37 Chromosome 11, 122953808: 122953808
6 CLMP NM_024769.3(CLMP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs587776966 GRCh38 Chromosome 11, 123083100: 123083100
7 CLMP NM_024769.3(CLMP): c.371T> A (p.Val124Asp) single nucleotide variant Pathogenic rs587776967 GRCh37 Chromosome 11, 122955237: 122955237
8 CLMP NM_024769.3(CLMP): c.371T> A (p.Val124Asp) single nucleotide variant Pathogenic rs587776967 GRCh38 Chromosome 11, 123084529: 123084529
9 CLMP NM_024769.3(CLMP): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs765907815 GRCh38 Chromosome 11, 123083728: 123083728
10 CLMP NM_024769.3(CLMP): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs765907815 GRCh37 Chromosome 11, 122954436: 122954436
11 CLMP NM_024769.3(CLMP): c.410G> A (p.Cys137Tyr) single nucleotide variant no interpretation for the single variant rs879253854 GRCh37 Chromosome 11, 122954534: 122954534
12 CLMP NM_024769.3(CLMP): c.410G> A (p.Cys137Tyr) single nucleotide variant no interpretation for the single variant rs879253854 GRCh38 Chromosome 11, 123083826: 123083826
13 CLMP NM_024769.3(CLMP): c.29-2A> G single nucleotide variant no interpretation for the single variant rs879253855 GRCh37 Chromosome 11, 122968662: 122968662
14 CLMP NM_024769.3(CLMP): c.29-2A> G single nucleotide variant no interpretation for the single variant rs879253855 GRCh38 Chromosome 11, 123097954: 123097954
Sources

Expression for Intestinal Pseudo-Obstruction

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Search GEO for disease gene expression data for Intestinal Pseudo-Obstruction.
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Pathways for Intestinal Pseudo-Obstruction

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Pathways related to Intestinal Pseudo-Obstruction according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Focal adhesion hsa04510

Pathways related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Smooth Muscle Contraction 66
10.51 ACTG2 MYH11
2
Cytoskeleton remodeling_RalA regulation pathway 22
10.34 ACTG2 FLNA MYH11
Sources

GO Terms for Intestinal Pseudo-Obstruction

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Cellular components related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.26 FLNA L1CAM RET SST
2 myosin filament GO:0032982 8.62 ACTG2 MYH11

Biological processes related to Intestinal Pseudo-Obstruction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to pain GO:0048265 9.16 EDNRB RET
2 posterior midgut development GO:0007497 8.96 EDNRB RET
3 enteric nervous system development GO:0048484 8.8 EDNRB RET TLX2
Sources

Sources for Intestinal Pseudo-Obstruction

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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